Canonical Allele Identifier: CA2838032341

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696921_28696923del , CM000684.2:g.28696921_28696923del	GRCh38
NC_000022.10:g.29092909_29092911del , CM000684.1:g.29092909_29092911del	GRCh37
NC_000022.9:g.27422909_27422911del	NCBI36
NG_008150.1:g.49916_49918del
NG_008150.2:g.49948_49950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1677_1009-1675del	ENSP00000518557.1:n.1009-1677_1009-1675del
ENST00000402731.6:c.876_878del	ENSP00000384835.2:p.Glu293del
ENST00000404276.6:c.1077_1079del MANE Select	ENSP00000385747.1:p.Glu360del
ENST00000425190.7:c.414_416del	ENSP00000390244.2:p.Glu139del
ENST00000464581.6:c.417_419del	ENSP00000483777.2:p.Glu140del
ENST00000648295.1:n.629_631del
ENST00000649563.1:c.414_416del	ENSP00000496928.1:p.Glu139del
ENST00000650281.1:c.1077_1079del	ENSP00000497000.1:p.Glu360del
ENST00000328354.10:c.1077_1079del	ENSP00000329178.6:p.Glu360del
ENST00000348295.7:c.1009-1046_1009-1044del	ENSP00000329012.5:n.1009-1046_1009-1044del
ENST00000382580.6:c.1206_1208del	ENSP00000372023.2:p.Glu403del
ENST00000402731.5:c.1009-1046_1009-1044del	ENSP00000384835.1:n.1009-1046_1009-1044del
ENST00000403642.5:c.804_806del	ENSP00000384919.1:p.Glu269del
ENST00000404276.5:c.1077_1079del	ENSP00000385747.1:p.Glu360del
ENST00000405598.5:c.1077_1079del	ENSP00000386087.1:p.Glu360del
ENST00000416671.5:c.*567_*569del	ENSP00000402225.1:n.*567_*569del
ENST00000417588.5:c.986_988del	ENSP00000412901.1:n.986_988del
ENST00000433028.6:c.*802_*804del	ENSP00000403659.1:n.*802_*804del
ENST00000433728.5:c.1015_1017del	ENSP00000404400.1:n.1015_1017del
ENST00000434810.5:c.308_310del
ENST00000447421.5:c.876_878del	ENSP00000397478.2:p.Glu293del
ENST00000448511.5:c.967_969del	ENSP00000404567.1:n.967_969del
ENST00000456369.5:c.263+2919_263+2921del
NM_001005735.1:c.1206_1208del	NP_001005735.1:p.Glu403del
NM_001257387.1:c.414_416del	NP_001244316.1:p.Glu139del
NM_007194.3:c.1077_1079del	NP_009125.1:p.Glu360del
NM_145862.2:c.1009-1046_1009-1044del	NP_665861.1:n.1009-1046_1009-1044del
XM_006724114.2:c.597_599del	XP_006724177.1:p.Glu200del
XM_006724116.2:c.534_536del	XP_006724179.2:p.Glu179del
XM_011529839.1:c.1236_1238del	XP_011528141.1:p.Glu413del
XM_011529840.1:c.1168-1046_1168-1044del	XP_011528142.1:n.1168-1046_1168-1044del
XM_011529841.1:c.1005_1007del	XP_011528143.1:p.Glu336del
XM_011529842.1:c.906_908del	XP_011528144.1:p.Glu303del
XM_011529843.1:c.876_878del	XP_011528145.1:p.Glu293del
XM_011529845.1:c.414_416del	XP_011528147.1:p.Glu139del
XR_937805.1:n.1236_1238del
XR_937806.1:n.1163-1046_1163-1044del
NM_001349956.1:c.876_878del	NP_001336885.1:p.Glu293del
NM_007194.4:c.1077_1079del MANE Select	NP_009125.1:p.Glu360del
XM_006724114.3:c.630_632del	XP_006724177.2:p.Glu211del
XM_011529839.2:c.1236_1238del	XP_011528141.1:p.Glu413del
XM_011529840.3:c.1168-1046_1168-1044del	XP_011528142.1:n.1168-1046_1168-1044del
XM_011529842.2:c.906_908del	XP_011528144.1:p.Glu303del
XM_011529845.2:c.414_416del	XP_011528147.1:p.Glu139del
XM_017028560.1:c.1200_1202del	XP_016884049.1:p.Glu401del
XM_017028561.2:c.414_416del	XP_016884050.1:p.Glu139del
XM_024452148.1:c.1107_1109del	XP_024307916.1:p.Glu370del
XM_024452149.1:c.1039-1046_1039-1044del	XP_024307917.1:n.1039-1046_1039-1044del
XR_937805.2:n.1247_1249del
XR_937806.2:n.1179-1046_1179-1044del
NM_001005735.2:c.1206_1208del	NP_001005735.1:p.Glu403del
NM_001257387.2:c.414_416del	NP_001244316.1:p.Glu139del
NM_001349956.2:c.876_878del	NP_001336885.1:p.Glu293del